Canonical Allele Identifier: CA346597850
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375322
ClinVar RCV Id: RCV000416333
dbSNP Id: rs1057519091
MyVariant Identifiers: chr2:g.31754381G>C (hg19) chr2:g.31529311G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529311G>C , CM000664.2:g.31529311G>C GRCh38
NC_000002.11:g.31754381G>C , CM000664.1:g.31754381G>C GRCh37
NC_000002.10:g.31607885G>C NCBI36
NG_008365.1:g.56661C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.694C>G MANE Select ENSP00000477587.1:p.His232Asp
ENST00000622030.1:c.694C>G ENSP00000477587.1:p.His232Asp
NM_000348.3:c.694C>G NP_000339.2:p.His232Asp
XM_011533069.1:c.472C>G XP_011531371.1:p.His158Asp
XM_011533070.1:c.439C>G XP_011531372.1:p.His147Asp
XM_011533071.1:c.439C>G XP_011531373.1:p.His147Asp
XM_011533072.1:c.439C>G XP_011531374.1:p.His147Asp
XM_011533069.2:c.472C>G XP_011531371.1:p.His158Asp
XM_011533072.2:c.439C>G XP_011531374.1:p.His147Asp
NM_000348.4:c.694C>G MANE Select NP_000339.2:p.His232Asp
Search 100 bp 5'
Search 100 bp 3'